R10L (p.Arg10Leu) variant of CLN3 (Battenin)
R10L (p.Arg10Leu) in CLN3 (Battenin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data.
R10L (p.Arg10Leu) variant details
- p.Arg10Leu
- TOPMed rs2046318806
- gnomAD rs2046318806
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- CADD 23.00
- PolyPhen-2 0.09
- SIFT 0.12
- Most common in the South Asian population (allele frequency 0.00021)